Scientists launch worldwide registry to unlock rare Fat-Storage disease

NCT ID NCT02918032

Recruiting now Knowledge-focused Sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan Source: ClinicalTrials.gov ↗

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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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.

NEUTRAL LIPID STORAGE DISEASE

Contacts and locations

Locations

A.C.O. San Filippo Neri Hospital
RECRUITING

Rome, Lazio, 00193, Italy
Catholic University
RECRUITING

Milan, Lombardy, 20123, Italy
Columbia University
RECRUITING

New York, New York, 10027, United States
Graduate School of Osaka University
RECRUITING

Suita, Osaka, 565-0874, Japan
Harefield Hospital
RECRUITING

Harefield, London, UB9 6JH, United Kingdom
Ludwig-Maximilians University
RECRUITING

Munich, Bavaria, 80539, Germany
Maastricht University
RECRUITING

Maastricht, Limburg, 6211, Netherlands
National Center of Neurology and Psychiatry
RECRUITING

Kodaira, Tokyo, 187-8551, Japan
New Castle University
RECRUITING

Newcastle upon Tyne, Tyne and Wear, NE1 7RU, United Kingdom
Peking University First Hospital
RECRUITING

Beijing, Beijing Municipality, 100034, China
Pitié-Salpêtrière Hospital
RECRUITING

Paris, Paris, 75013, France
Sapienza University of Rome
RECRUITING

Rome, Lazio, 00185, Italy
Stanford University
RECRUITING

Stanford, California, 94305-2004, United States
University of Graz
RECRUITING

Graz, Styria, 8010, Austria
University of Padova
RECRUITING

Padova, Veneto, 35122, Italy