Scientists launch worldwide registry to unlock rare Fat-Storage disease

NCT ID NCT02918032

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating an international registry for people with neutral lipid storage disease (NLSD), a rare condition where fat builds up in cells, especially affecting the heart. Researchers will collect medical history, track disease progression, and look for factors that influence survival. The goal is to better understand the disease and support future treatment development.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this registry could help identify factors that affect disease progression and point toward better management strategies for NLSD/TGCV.

What could go wrong

This is an observational registry, not a treatment trial, so it will not directly test a new therapy. Results depend on voluntary reporting and may not apply to all patients.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Chanarin-Dorfman Syndrome neutral lipid storage disease Neutral Lipid Storage Disease with Myopathy triglyceride deposit cardiomyovasculopathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-••••

Locations

  • A.C.O. San Filippo Neri Hospital

    RECRUITING

    Rome, Lazio, 00193, Italy

    Contact Phone: •••-•••-••••

  • Catholic University

    RECRUITING

    Milan, Lombardy, 20123, Italy

    Contact Phone: •••-•••-••••

  • Columbia University

    RECRUITING

    New York, New York, 10027, United States

    Contact Phone: •••-•••-••••

  • Graduate School of Osaka University

    RECRUITING

    Suita, Osaka, 565-0874, Japan

    Contact Phone: •••-•••-••••

  • Harefield Hospital

    RECRUITING

    Harefield, London, UB9 6JH, United Kingdom

    Contact Phone: •••-•••-••••

  • Ludwig-Maximilians University

    RECRUITING

    Munich, Bavaria, 80539, Germany

    Contact Phone: •••-•••-••••

  • Maastricht University

    RECRUITING

    Maastricht, Limburg, 6211, Netherlands

    Contact Phone: •••-•••-••••

  • National Center of Neurology and Psychiatry

    RECRUITING

    Kodaira, Tokyo, 187-8551, Japan

    Contact Phone: •••-•••-••••

  • New Castle University

    RECRUITING

    Newcastle upon Tyne, Tyne and Wear, NE1 7RU, United Kingdom

    Contact Phone: •••-•••-••••

  • Peking University First Hospital

    RECRUITING

    Beijing, Beijing Municipality, 100034, China

    Contact Phone: •••-•••-••••

  • Pitié-Salpêtrière Hospital

    RECRUITING

    Paris, Paris, 75013, France

    Contact Phone: •••-•••-••••

    Contact Phone: •••-•••-••••

  • Sapienza University of Rome

    RECRUITING

    Rome, Lazio, 00185, Italy

    Contact Phone: •••-•••-••••

  • Stanford University

    RECRUITING

    Stanford, California, 94305-2004, United States

    Contact Phone: •••-•••-••••

  • University of Graz

    RECRUITING

    Graz, Styria, 8010, Austria

    Contact Phone: •••-•••-••••

  • University of Padova

    RECRUITING

    Padova, Veneto, 35122, Italy

    Contact Phone: •••-•••-••••