Timothy Syndrome Alliance

What Timothy Syndrome Alliance does

Timothy Syndrome Alliance (TSA) is a UK-registered charity (Charity number 1185523, founded 2019) and the only patient organisation globally dedicated to CACNA1C-related disorders, an ultra-rare spectrum of conditions caused by variants in the CACNA1C gene that affect calcium channel function across cardiac, neurologic, and developmental systems. TSA serves affected families and individuals (250+ identified patients across 30+ countries), clinicians, and academic and industry researchers studying the condition. Its core product is the CACNA1C Community Registry, a global voluntary patient registry built on the Pulse Infoframe / Rare Central platform that captures longitudinal clinical and genetic data, supports 9 survey languages, and is structured to comply with HIPAA, GDPR, and PHIPA. A developing TSA Biobank will link registry data to longitudinal biospecimens for translational and therapeutic development use. Surrounding the registry, TSA runs the annual Connect CACNA1C Global Network Conference, peer support groups, counselling services through Rareminds, award-winning short films, and a speech-and-language study with Murdoch Children's Research Institute. The Scientific Advisory Board includes researchers from Cardiff University, Stanford Medicine, Oxford, the University of Maryland, and the University of Toronto.

TSA's business model is non-commercial. All services are provided free of charge to patients and families; TSA charges no fees for registry participation, events, or counselling. Revenue is generated entirely through donations and grants: individual donations via PayPal, JustGiving, CAF (UK), GlobalGiving, EasyFundraising, and Give as you Live; Donor-Advised Fund giving routed through Rare Village Foundation (US 501(c)(3) fiscal sponsor) and NGO Source equivalency determination; and institutional grants from the Chan Zuckerberg Initiative (five-year Rare As One Network partnership from October 2024 funding two staff roles), Postcode Local Trust, and the Stanley Grundy Foundation. The go-to-market motion is community-led: families discover TSA through social media, clinician referrals, peer support groups, family days, and word-of-mouth within the rare disease community. TSA is governed by a board of nine trustees and operates with only two paid staff (both CZI-funded); the organisation is otherwise run entirely by parents and volunteers.

Name

Timothy Syndrome Alliance

Legal name

Timothy Syndrome Alliance

Website

https://timothysyndrome.org.uk

Company type

Private

Founded year

2019

Operating status

Operating

Short description

Timothy Syndrome Alliance (TSA) is a UK-registered charity and the only global patient organisation dedicated to CACNA1C-related disorders. It operates a worldwide patient registry on the Pulse Infoframe platform, an emerging biobank, counselling, conferences, and peer support for affected families and researchers.

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy

NAICS

Other Individual and Family Services (624190), Individual and Family Services (6241)

SIC

Services-Social Services (8300), Services-Health Services (8000)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

akta.pro secondary industry

Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)

Keywords

• Rare disease advocacy
• Patient registry services
• Community support
• Research collaboration
• Patient advocacy

Headquarters

HQ city

Minchinhampton, Gloucestershire

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Operations, Marketing or Sales, Technology or R&D, Others

Revenue model

1. Individual donations: TSA receives donations from individuals worldwide via PayPal, JustGiving, CAF (UK), and GlobalGiving. Monthly donors are specifically recruited as 'steady partners in change'. Donations support community support, diagnosis improvement, and research initiatives.
2. Corporate and foundation grants: TSA receives grant funding from organisations including the Chan Zuckerberg Initiative (CZI Rare As One Network, five-year partnership starting October 2024), Postcode Local Trust, and Stanley Grundy Foundation. CZI funding supports two dedicated staff roles.
3. Charitable trust and DAF giving: TSA accepts gifts from Donor-Advised Funds (DAFs), with US donors directed to Rare Village Foundation (EIN 83-4699994) or directly to the UK charity using NGO Source equivalency determination. UK donors can use CAF with Gift Aid.

Pricing tiers

Go-to-market motion1 record

Distribution channels6 records

Marketing channels9 records

Core offering

Timothy Syndrome Alliance is a UK-registered patient advocacy charity that supports individuals and families affected by CACNA1C-related disorders (including Timothy Syndrome). Its core offerings include a global voluntary patient registry (CACNA1C Community Registry), peer support groups, counselling services delivered through Rareminds, annual international conferences, clinician education, and advocacy for genomics panel inclusion. All services are provided free of charge to patients and families, funded by donations, grants, and charitable giving.

Product overview

Timothy Syndrome Alliance (TSA) is a patient advocacy charity that operates a portfolio of programs and services rather than a unified software product. The core offering is the CACNA1C Community Registry—a global patient registry built on the Pulse Infoframe platform that enables real-world data collection for research. Supporting services include award-winning short films for education and awareness, the annual Connect CACNA1C Global Network Conference for community and research engagement, counselling services delivered through Rareminds, an online support group, a developing biobank for translational research, and a speech and language research study. These services work together to advance TSA's mission of improving diagnosis, treatment, and care for individuals with CACNA1C-Related Disorders.

Differentiator

Problem solved

Functional benefit

Products and services

• CACNA1C Community Registry A global, free, voluntary patient registry for individuals with documented CACNA1C gene variations, enabling families to share real-world clinical and genetic data with researchers and pharmaceutical companies to advance diagnosis, management, and therapeutic development.
• Counselling Services Mental health support services for the CACNA1C community, including 'Mind the Gap' parent and carer resilience groups and individual/couples counselling delivered by specialist therapists trained in rare disease challenges.
• Connect CACNA1C Global Network Conference Annual international conference bringing together patients, families, researchers, and clinicians to share knowledge, discuss CACNA1C research advances, and shape patient-prioritised research agendas.
• TSA Biobank (in development) A developing disease-specific biobank linking genetically confirmed CACNA1C patients to longitudinal biospecimens, structured for translational and clinical development use, including biomarker validation and therapeutic development programmes.
• Speech and Language Study A research study investigating speech and language abilities in individuals with CACNA1C variants, conducted with Murdoch Children's Research Institute to develop targeted support strategies.

Quantifiable outcome

• Average 9.7-year diagnostic odyssey reduced through clinician education and genomics panel advocacy
• +2 more outcomes

Named customers1 record

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature2 records

Partnerships

13 partnerships are on record, tiered core and minor.

• Chan Zuckerberg Initiative (CZI) Rare As One NetworkcoreStrategic or Co-development Partner · 1 October 2024Five-year partnership (Cycle 3) from October 2024. TSA is one of the first international patient organisations in the CZI Rare As One Network. The partnership strengthens TSA's capacity as a patient-led organisation, supporting its work bringing patients, researchers, and clinicians together to drive forward research into CACNA1C-Related Disorders and shape shared research priorities.
• Cardiff UniversitycoreStrategic or Co-development PartnerTSA collaborates closely with the Division of Psychological Medicine and Clinical Neurosciences in Cardiff University's School of Medicine. Researchers including Dr. Jack Underwood and Prof. Jeremy Hall are members of TSA's Scientific Advisory Board. Cardiff University hosted the 2019 family day event and the Neuroscience and Mental Health Research Institute provides conference Zoom subscriptions.
• Stanford MedicinecoreStrategic or Co-development PartnerTSA works with Stanford Medicine researchers including Dr. Rebecca Levy (member of Scientific Advisory Board) on neuropsychiatric spectrum studies of CACNA1C-related disorders. Collaboration includes international studies connecting Cardiff and Stanford on brain development and mental health research.
• Pulse Infoframe / Rare CentralcoreTechnology or IntegrationPulse Infoframe's Rare Central platform (Rare Central, the Pulse Infoframe platform) is used for the CACNA1C Community Registry. It was designed to comply with international regulatory data standards including HIPAA, GDPR, and PHIPA. It serves as both a data collection tool for researchers and a health information storage platform for participants.
• RaremindsminorStrategic or Co-development PartnerTSA partners with Rareminds to provide mental health support to the CACNA1C community through 'Mind the Gap' parent and carer resilience groups and individual/couples counselling. Delivered by qualified, specialist therapists designed for rare disease challenges.
• GlobalGivingminorChannel Partner/ Reseller/ DistributorGlobalGiving serves as a donation processing platform for TSA, providing tax-deductible donation acceptance for US and UK taxpayers and accepting international currencies. TSA's GlobalGiving project page supports the patient registry.
• CAF (Charities Aid Foundation)minorChannel Partner/ Reseller/ DistributorCAF processes TSA's UK online donations via cafdonate.cafonline.org/14716. Gift Aid is processed through CAF, allowing TSA to claim an extra 25p per £1 donated from HMRC.
• Rare Village FoundationminorChannel Partner/ Reseller/ DistributorRare Village Foundation (EIN 83-4699994) serves as TSA's US fiscal sponsor, enabling US-based donors to make tax-deductible donations and providing immediate US tax receipts via the Rare Village platform.
• NGO SourceminorOthersNGO Source provides equivalency determination certification, confirming TSA meets US public charity standards. This streamlines the ED process for US donors and foundations.
• EasyFundraising and Give as you LiveminorChannel Partner/ Reseller/ DistributorShopping donation platforms with 3,300+ retailer partnerships. Supporters designate TSA as their charity and a percentage of purchases is donated at no extra cost to the shopper.
• Genomics EnglandcoreStrategic or Co-development PartnerTSA advocacy work led to CACNA1C being added to the Genomics England PanelApp 'early onset or syndromic Epilepsy' panel and 'CACNA1C-related disorder' being added as a clinical indication to existing panels. PanelApp is a publicly available knowledgebase used by experts in the worldwide scientific community and relates to genomic tests in the NHS National Genomic Test Directory.
• SADS FoundationminorStrategic or Co-development PartnerTSA works with the SADS (Sudden Arrhythmia Death Syndromes) Foundation, which supports research and awareness around Long QT Syndrome. TSA holds a Timothy Syndrome session at the annual SADS Conference where experts present to families. Since 2016, TSA has provided scholarships for families to attend the SADS Conference.
• Murdoch Children's Research Institute (MCRI)coreStrategic or Co-development PartnerTSA is collaborating with researchers at MCRI in Australia (Dr. Miya St. John) on a speech and language study investigating speech and language abilities in individuals with CACNA1C variants. TSA is actively recruiting participants for this study (eligible aged 6 months to adulthood).

Scale indicators6 records

Recent moves6 records

Expansion highlights6 records

Broad incumbents

• National Organization for Rare Disorders (NORD): NORD is the largest US umbrella advocacy organisation for rare diseases, providing infrastructure, policy advocacy, and research support that benefits individual disease-specific organisations like TSA. It is a broad incumbent rather than a direct competitor.
• Global Genes: Global Genes is a US-based rare disease advocacy organisation that provides toolkits, alliances, and convening services to disease-specific patient organisations including ultra-rare ones like TSA. It is a broader-incumbent peer in mission and target audience.
• EURORDIS - Rare Diseases Europe: EURORDIS is the European umbrella organisation representing rare disease patient organisations. It is a key policy and capacity-building counterpart for TSA, especially given TSA's UK charity base and international scope.
• EveryLife Foundation for Rare Diseases: EveryLife Foundation focuses on accelerating biotech innovation for rare diseases through policy and patient community enablement. It addresses the same industry-partnership strategy TSA is pursuing (e.g., connecting patient data to therapeutic development) at a broader scale.

Emerging players

• Cure Rare Disease: A US-based nonprofit that develops and funds personalised therapeutics for ultra-rare diseases, including community-driven research models. It is comparable in operating model — patient-led, ultra-rare disease focus, bridge between families and therapeutic development — but operates in a different therapeutic modality space.
• Cardiac Arrhythmia Network of Canada (CANet): CANet is a Canadian network focused on arrhythmia research and patient outcomes, including inherited channelopathies overlapping with CACNA1C-related disorders. It is a comparable research-convening model in a narrower geographic footprint.

Regional players

• Sudden Arrhythmia Death Syndromes (SADS) UK: SADS UK is the UK equivalent of SADS Foundation, also focused on inherited cardiac rhythm disorders including Long QT Syndrome. It serves a directly overlapping disease area but is primarily UK-focused, whereas TSA operates globally.

Direct peers

• SADS Foundation: SADS Foundation supports research and awareness for Long QT Syndrome and other sudden arrhythmia death syndromes. It is TSA's closest programmatic partner — TSA holds Timothy Syndrome sessions at the SADS annual conference and has provided scholarships for families since 2016 — and serves the overlapping CACNA1C / Long QT Type 8 population.
• Long QT Syndrome Foundation (LQTS Foundation): A patient advocacy organisation dedicated to Long QT Syndrome, which overlaps with Timothy Syndrome / Long QT Type 8 caused by CACNA1C variants. It pursues a comparable model of community support, clinician education, and research registry infrastructure.
• Pitt Hopkins Research Foundation: Pitt Hopkins Research Foundation is a parent-led nonprofit supporting an ultra-rare neurodevelopmental syndrome with similar structure to TSA: small paid staff, parent-led governance, patient registry, research funding, family conferences, and industry-facing research agenda. It is a strong model peer for TSA's operating approach.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xtwitter.com/tsa_charity
• Facebookfacebook.com/Timothy-Syndrome-Alliance-125280624760486
• LinkedInlinkedin.com/company/timothy-syndrome-alliance
• Instagraminstagram.com/timothysyndromealliance

Compliance3 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles11 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Timothy Syndrome Alliance