2018-05-16T10:46:01+00:0025. April 2018|

Tanganil in patients with tay-sachs and sandhoff

It has been nearly one year now that the GM1- and GM2-Gangliosidosis had been included in the compassionate use.

Two LOTS and two juvenile sandhoff are treated in Munich. We can also see the     first  improvements here (ataxia, speech, walking,etc).

In addition there is also a study with sandhoff mice by Prof. Frances Platt (Univ. Oxford) under the participation of Prof. Michael Strupp (LMU München). This study showed a delay of the symptoms under the therapy with Acetyl-DL-Leucin. A clearly reduced ataxia is also visible in the mouse model. Results, how the Acetyl-DL-Leucin exactly works in the cells, are expected for the middle of 2018.

Another official patient study is planned for 2018, in which also patients with tay-sachs and sandhoff will be included. The minimum age of the patients in that study will be 6.


  • This is the design of the study so far:

Patients, that are willing to try Tanganil before the study starts, can do this after the consultation with their neurologists. The neurologist should get in touch with the LMU Munich (Prof. Strupp, Dr. Bremova oder Marlene Moser).
















On demand Dr. Tatiana Bremova confirmed that Tanganil can also be tried for infantile cases. It might delay the appearance of some symptoms or could alleviate existing symptoms.

When someone is interested, they should also get in touch with the LMU Munich. It doesn´t matter if the patient is living in Germany or elsewhere, the only important thing is that a neurologist accomanies the tests. Hand in Hand gegen Tay-Sachs und Sandhoff in Deutschland e.V. constructively accompanied the tests with Acety-DL-Leucin right from the start and has a close exchange with the researchers. We are happy to share further information if needed.

Folker Quack and Birgit Hardt

Dr. Tatiana Bremova-Ertl  in Würzburg


  1. Deborah Elstein 23. Juli 2018 um 17:01 Uhr - Antworten

    I am writing to ask if you might be interested in a severity score that I developed for LOTS (see Elstein et al.J Inherit Metab Dis. 2008 Aug;31(4):518-23.). At the time we were monitoring some patients with LOTS and found that the scoring by modules helped us to identify incipient clinical change; it has not been formally validated. I am printing it below should you be interested: I think it is a good disease-specific scale.
    1. Cerebellar: range of 0-5 points:
    0 = normal
    1 = abnormal signs such as tremor and difficulty with handwriting or
    fine motor movements but no functional disability
    2 = mild ataxia and/or some dexterity problems
    3 = moderate ataxia with truncal or limb (lower or upper) involvement
    4 = severe ataxia/balance problems with involvement of all limbs
    5 = unable to perform tasks in a coordinated way because of ataxia
    2. Psychiatric: range of 0-5 points:
    0 = normal, able to perform in the working arena
    1 = mood alterations but insight preserved
    2 = mild psychiatric disturbances and/or depression
    3 = moderate psychiatric disturbances controlled by medication
    4 = severe psychiatric disturbances requiring hospitalization
    5 = psychosis and/or complete withdrawal from surroundings
    3. Bulbar signs: range of 0-5 points:
    0 = normal
    1 = mild dysarthria/speech problems
    2 = mild dysarthria/speech problems and mild swallowing problems
    3 = moderate dysarthria and mild swallowing problems
    4 = severe dysarthria and mild swallowing problems
    5 = severe dysarthria and severe swallowing problems
    4. Upper limb muscle strength: range of 0-5 points
    0 = normal
    1 = mild weakness and /or fasciculations
    2 = moderate weakness causing functional impairment (e.g. in tasks
    such as feeding, dressing)
    3 = cannot write legibly
    4= cannot manipulate objects with hands (e.g. use a computer cursor)
    5 = cannot move arms above shoulder
    5. Lower limb muscle strength: range of 0-5 points
    0 = normal
    1 = needs arms to rise from chair or falls often but can walk unassisted
    2 = stands unassisted; needs intermittent, unilateral assistance to walk
    3 = cannot stand alone or needs continuous unilateral assistance to
    4 = can shuffle-walk with bilateral assistance
    5 = cannot walk
    6. Activities of daily living: range of 0-5 points:
    0 = needs no assistance
    1 = mild assistance occasionally e.g. when tired or stressed
    2 = needs some mechanical assistance (cane, walker)
    3 = moderate assistance with complex tasks or wheel-chair dependent
    4 = severe with full-time assistance required for all tasks
    5 = immobile with no ability to perform independently

    LOTS scale domain scoring: 0 = normal; 1-10 = mild; 11-20 = moderate; 21-30 = severe

  2. preworkoutboostertest 12. Oktober 2018 um 0:48 Uhr - Antworten

    Klasse! Endlich mal jemand der weiß wovon er redet! Toller Beitrag, Dankeschön! 🙂

  3. bjorlanda fiske oppettider 31. Dezember 2018 um 17:08 Uhr - Antworten

    This site was… how do I say it? Relevant!!

    Finally I’ve found something which helped me.
    Appreciate it!

  4. Natalia 25. Juli 2019 um 2:07 Uhr - Antworten


    Please! We need some help with a girl suffering tay sachs in Argentina. She is not able to take the “tanganil” because Mylan Lab do not sale it there.

  5. Terina Yong 22. August 2019 um 0:21 Uhr - Antworten

    I am a mother and this helped me!

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