Clinical Trials and Research

Active Clinical Trials

 

NIH U54 Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias, LeDoux- Site PI, 01MAY2011 – present.

Parkinson’s Foundation, Trial of Parkinson’s and Zoledronic Acid (TOPAZ), LeDoux – Site PI, 04DEC2019 – present.

Neurocrine Biosciences, Inc., “OPTI-ON: Opicapone Treatment Initiation Open-Label Study”, LeDoux- Site PI, 08JAN2021 – present.

Aeon Biopharma, Inc., “A Phase 2, Randomized, Double-Blind, Multicenter, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Intramuscular ABP-450 (prabotulinumtoxinA) injection for the Treatment of Cervical Dystonia, ABP-19000”, LeDoux – Site PI, 25JAN2021 – present.

Aeon Biopharma, Inc., “An Open-Label, Multicenter Study to Evaluate the Safety and Efficacy of Repeat Intramuscular ABP-450 (prabotulinumtoxinA) Injection for the Treatment of Cervical Dystonia”, LeDoux – Site PI, 25JAN2021 – present.

Cerevel, “A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Flexible-Dose, 27-Week Trial to Evaluate the Efficacy, Safety, and Tolerability of TAVAPADON in Early Parkinson’s Disease (TEMPO-2 Trial)”, LeDoux – Site PI, 25JAN2021 – present.

Cerevel, “A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Flexible-Dose, 27-Week Trial to Evaluate the Efficacy, Safety, and Tolerability of TAVAPADON as Adjunctive Therapy for Parkinson’s Disease in Levodopa-Treated Adults with Motor Fluctuations (TEMPO-3 Trial)” LeDoux – Site PI, 25JAN2021 – present.

Cerevel, “58 Week Open-Label Trial of TAVAPADON in Parkinson’s Disease (TEMPO-4 Trial)”, LeDoux – Site PI, 25JAN2021 – present.

Teva, “Real-World Utilization of Deutetrabenazine Initiated by a 4-Week Patient Titration Kit”, 28SEP2021 - present.

Sage Therapeutics, “SAGE-718, A Randomized, Placebo-Controlled, Double- Blind Study to Evaluate the Effect of SAGE-718 on Cognitive Function in Participants with Huntington’s Disease”, 29SEP2021 - present.
 

Sage Therapeutics, “A Phase 2, Double-Blind, Randomized, Placebo- Controlled, Dose-Response Study of Sage-324 for the Treatment of Essential Tremor, Protocol Number 324-ETD-202”, 08NOV2021 - present.
 

Recent Publications

Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS, Hallett M, Klein C, Wagle-Shukla A, Malaty IA, Reich SG, Berman BD, Feuerstein J, Vidailhet M, Roze E, Jankovic J, Mahajan A, Espay AJ, Barbano RL, LeDoux MS, Pantelyat A, Frank S,Stover N, Berardelli A, Leegwater-Kim J, Defazio G, Norris SA, Jinnah HA; Dystonia Coalition Investigators. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. Mov Disord Clin Pract. 2021 9(2):183-190.

 

Tremblay MG, Sibai DS, Valere M, Mars JC, Lessard F, Hori RT, Khan MM, Stefanovsky VY, LeDoux MS, Moss T. Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome. PLoS Genet. 2022 18(2): e1009644.

 

LeDoux MS. No Neuron Operates in Isolation. Neurology. 2022 Mar

8;98(10):389-390.

 

LeDoux MS, Xiao J. Palmaris Brevis Syndrome: A Treatable Pseudodystonia. Tremor Other Hyperkinet Mov (N Y). 2021 11:45.

 

Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2022 37(2):375-383.

 

Scorr LM, Factor SA, Parra SP, Kaye R, Paniello RC, Norris SA, Perlmutter JS, Baumer T, Usnich T, Berman BD, Mailly M, Roze E, Vidailhet M, Jankovic J, LeDoux MS, Barbano R, Chang FCF, Fung VSC, Pirio Richardson S, Blitzer A, Jinnah HA. Oromandibular Dystonia: A Clinical Examination of 2,020 Cases. Front Neurol.

2021 12:700714.

 

Parkinson Study Group SURE-PD3 Investigators, Schwarzschild MA, Ascherio A, Casaceli C, Curhan GC, Fitzgerald R, Kamp C, Lungu C, Macklin EA, Marek K, Mozaffarian D, Oakes D, Rudolph A, Shoulson I, Videnovic A, Scott B, Gauger L, Aldred J, Bixby M, Ciccarello J, Gunzler SA, Henchcliffe C, Brodsky M, Keith K, Hauser RA, Goetz C, LeDoux MS, Hinson V, Kumar R, Espay AJ, Jimenez-Shahed J, Hunter C, Christine C, Daley A, Leehey M, de Marcaida JA, Friedman JH, Hung A, Bwala G, Litvan I, Simon DK, Simuni T, Poon C, Schiess MC, Chou K, Park A, Bhatti D, Peterson C, Criswell SR, Rosenthal L, Durphy J, Shill HA, Mehta SH, Ahmed A, Deik AF, Fang JY, Stover N, Zhang L, Dewey RB Jr, Gerald A, Boyd JT, Houston E, Suski V, Mosovsky S, Cloud L, Shah BB, Saint-Hilaire M, James R, Zauber SE, Reich S, Shprecher D, Pahwa R, Langhammer A, LaFaver K, LeWitt PA, Kaminski P, Goudreau J, Russell D, Houghton DJ, Laroche A, Thomas K, McGraw M, Mari Z, Serrano C, Blindauer K, Rabin M, Kurlan R, Morgan JC, Soileau M, Ainslie M, Bodis-Wollner I, Schneider RB, Waters C, Ratel AS, Beck CA, Bolger P, Callahan KF, Crotty GF, Klements D, Kostrzebski M, McMahon GM, Pothier L, Waikar SS, Lang A, Mestre T. Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression: The SURE-PD3 Randomized Clinical Trial. JAMA. 2021 326(10):926-939.

 

Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Kramer UM, Neis M, Baumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kahn AA, Borngraber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord. 2021 36(12):2795-2801.

 

Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2021 89:151-154.

 

Wang M, Sajobi T, Morgante F, Adler C, Agarwal P, Baumer T, Berardelli A, Berman BD, Blumin J, Borsche M, Brashear A, Deik A, Duque K, Espay AJ, Ferrazzano G, Feuerstein J, Fox S, Frank S, Hallett M, Jankovic J, LeDoux MS, Leegwater-Kim J, Mahajan A, Malaty IA, Ondo W, Pantelyat A, Pirio-Richardson S, Roze E, Saunders-Pullman R, Suchowersky O, Truong D, Vidailhet M, Shukla AW, Perlmutter JS, Jinnah HA, Martino D. Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion. Eur J Neurol. 2021 28(12):3999-4009.

LeDoux MS. Population Prevalence of Deleterious SGCE Variants. Tremor Other Hyperkinet Mov (N Y). 2020 Nov 4;10:50.

 

Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic

marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 Oct 21;12(566).

 

Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, LeDoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort. Neurology. 2021 Jan 26;96(4):e563-e574.

 

Calame DJ, Xiao J, Khan MM, Hollingsworth TJ, Xue Y, Person AL, LeDoux MS. Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia. Neuroscience. 2020 Nov 10;448:272-286.

 

Norris SA, Jinnah HA, Klein C, Jankovic J, Berman BD, Roze E, Mahajan A, Espay AJ, Murthy AV, Fung VSC, LeDoux MS, Chang FCF, Vidailhet M, Testa C, Barbano R, Malaty IA, Bäumer T, Loens S, Wright LJ, Perlmutter JS. Clinical and Demographic Characteristics of Upper Limb Dystonia. Mov Disord. 2020 Nov;35(11):2086-2090.

 

Varga MG, Nand NP, LeDoux MS. Delayed Diagnoses of SGCE Myoclonus- Dystonia. Tremor Other Hyperkinet Mov (N Y). 2020 Jul 28;10:23.

 

Claassen DO, Corey-Bloom J, Dorsey ER, Edmondson M, Kostyk SK, LeDoux MS, Reilmann R, Rosas HD, Walker F, Wheelock V, Svrzikapa N, Longo KA, Goyal J, Hung S, Panzara MA. Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease. Neurol Genet. 2020 May 14;6(3):e430.

 

Miocinovic S, Vengoechea J, LeDoux MS, Isbaine F, Jinnah HA. Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia. Parkinsonism Relat Disord. 2020 Apr;73:55-56.

 

Narayana S, Parsons MB, Zhang W, Franklin C, Schiller K, Choudhri AF, Fox PT, LeDoux MS, Cannito M. Mapping typical and hypokinetic dysarthric speech production network using a connected speech paradigm in functional MRI. Neuroimage Clin. 2020;27:102285.

 

Fernandez HH, Stamler D, Davis MD, Factor SA, Hauser RA, Jimenez-Shahed J, Ondo WG, Jarskog LF, Woods SW, Bega D, LeDoux MS, Shprecher DR, Anderson KE. Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1317-1323.

 

Junker J, Brandt V, Berman BD, Vidailhet M, Roze E, Weissbach A, Comella C, Malaty IA, Jankovic J, LeDoux MS, Berardelli A, Barbano R, Reich SG, Perlmutter JS, Jinnah HA, Brüggemann N. Predictors of alcohol responsiveness in dystonia. Neurology. 2018 Nov 20;91(21):e2020-e2026.

 

Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med. 2018 May 16;6(4):601–26.